OpenURL Connection Search

Select item for more details and to access through your institution.

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.
Published in:
Acta Diabetologica, 2024, v. 61, n. 2, p. 181, doi. 10.1007/s00592-023-02193-x
By:
- De Sousa, Sunita M. C.;
- Wu, Kathy H. C.;
- Colclough, Kevin;
- Rawlings, Lesley;
- Dubowsky, Andrew;
- Monnik, Melissa;
- Poplawski, Nicola;
- Scott, Hamish S.;
- Horowitz, Michael;
- Torpy, David J.
Publication type:
Article
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Published in:
2020
By:
- Kumar, Kishore R;
- Cortese, Andrea;
- Tomlinson, Susan E;
- Efthymiou, Stephanie;
- Ellis, Melina;
- Zhu, Danqing;
- Stoll, Marion;
- Dominik, Natalia;
- Tisch, Stephen;
- Tchan, Michel;
- Wu, Kathy H C;
- Devery, Sophie;
- Spring, Penelope J;
- Hawke, Simon;
- Cremer, Phillip;
- Ng, Karl;
- Reilly, Mary M;
- Nicholson, Garth A;
- Houlden, Henry;
- Kennerson, Marina
Publication type:
Letter
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1923
By:
- Grosz, Bianca R.;
- Tisch, Stephen;
- Tchan, Michel C.;
- Fung, Victor S. C.;
- Darveniza, Paul;
- Fellner, Avi;
- Kurian, Manju A.;
- McLean, Alison;
- Tomlinson, Susan E.;
- Smyth, Renee;
- Devery, Sophie;
- Wu, Kathy H. C.;
- Kennerson, Marina L.;
- Kumar, Kishore R.
Publication type:
Article
Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.
Published in:
Journal of the Endocrine Society, 2020, v. 4, n. 10, p. 1, doi. 10.1210/jendso/bvaa104
By:
- Hussain, Iram;
- Jin, Ruilin Raelene;
- Baum, Howard B A;
- Greenfield, Jerry R;
- Devery, Sophie;
- Xing, Chao;
- Hegele, Robert A;
- Carranza-Leon, Barbara G;
- Linton, Macrae F;
- Vuitch, Frank;
- Wu, Kathy H C;
- Precioso, Débora Rossi;
- Oshima, Junko;
- Agarwal, Anil K;
- Garg, Abhimanyu
Publication type:
Article
Informing a value care model: lessons from an integrated adult neurogenomics clinic.
Published in:
Internal Medicine Journal, 2023, v. 53, n. 12, p. 2198, doi. 10.1111/imj.16103
By:
- McLean, Alison;
- Tchan, Michel;
- Devery, Sophie;
- Smyth, Renee;
- Shrestha, Rupendra;
- Kumar, Kishore R.;
- Tomlinson, Susan;
- Tisch, Stephen;
- Wu, Kathy H. C.
Publication type:
Article
Tip of the iceberg: are we missing undiagnosed patients with maturity onset diabetes of the young?
Published in:
2022
By:
- Moxham, Rosalind;
- Greenfield, Jerry R.;
- Viardot, Alex;
- Wu, Kathy H. C.
Publication type:
Letter to the Editor
Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation.
Published in:
2019
By:
- Dai, Pei;
- Furlong, Tim;
- Gracie, Gary;
- Huang, Min Li;
- Yang, Tao;
- Wu, Kathy H. C.;
- Danta, Mark;
- Wong, Melanie;
- Williams, Andrew;
- March, Lyn;
- Hetherington, Marie;
- Heyworth-Smith, David;
- Phan, Tri Giang
Publication type:
Letter

Found: 7

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.

Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.

Informing a value care model: lessons from an integrated adult neurogenomics clinic.

Tip of the iceberg: are we missing undiagnosed patients with maturity onset diabetes of the young?

Autoinflammation Masquerading as Autoimmunity in an Adult with Heterozygous p.E250K PSTPIP1 Mutation.